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Items: 1 to 20 of 126

1.

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A.

Nat Genet. 2000 Jul;25(3):343-6.

PMID:
10888887
2.

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F.

Hum Mutat. 2004 Sep;24(3):225-35.

PMID:
15300850
3.

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

Sobacchi C, Pangrazio A, Lopez AG, Gomez DP, Caldana ME, Susani L, Vezzoni P, Villa A.

J Bone Miner Res. 2014 Jul;29(7):1646-50. doi: 10.1002/jbmr.2203.

4.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A.

Hum Mol Genet. 2001 Aug 15;10(17):1767-73.

PMID:
11532986
5.

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.

Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C.

Hum Mol Genet. 2000 Aug 12;9(13):2059-63.

PMID:
10942435
6.

Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.

Perdu B, Odgren PR, Van Wesenbeeck L, Jennes K, Mackay CC, Van Hul W.

Calcif Tissue Int. 2009 May;84(5):355-60. doi: 10.1007/s00223-009-9229-7. Epub 2009 Mar 4.

7.

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.

Moscatelli I, Thudium CS, Flores C, Schulz A, Askmyr M, Gudmann NS, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J.

Bone. 2013 Nov;57(1):1-9. doi: 10.1016/j.bone.2013.07.026. Epub 2013 Jul 29.

PMID:
23907031
8.

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

Bruder E, Stallmach T, Peier K, Superti-Furga A, Vezzoni P.

Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):3-9.

PMID:
12687885
9.

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.

Zhang XY, He JW, Fu WZ, Wang C, Zhang ZL.

Acta Pharmacol Sin. 2017 Nov;38(11):1456-1465. doi: 10.1038/aps.2017.108. Epub 2017 Aug 17.

PMID:
28816234
10.

Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis.

Michigami T, Kageyama T, Satomura K, Shima M, Yamaoka K, Nakayama M, Ozono K.

Bone. 2002 Feb;30(2):436-9.

PMID:
11856654
11.

Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy.

Thudium CS, Moscatelli I, Löfvall H, Kertész Z, Montano C, Bjurström CF, Karsdal MA, Schulz A, Richter J, Henriksen K.

Calcif Tissue Int. 2016 Dec;99(6):638-648. Epub 2016 Aug 19.

PMID:
27541021
12.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Palagano E, Blair HC, Pangrazio A, Tourkova I, Strina D, Angius A, Cuccuru G, Oppo M, Uva P, Van Hul W, Boudin E, Superti-Furga A, Faletra F, Nocerino A, Ferrari MC, Grappiolo G, Monari M, Montanelli A, Vezzoni P, Villa A, Sobacchi C.

J Bone Miner Res. 2015 Oct;30(10):1814-21. doi: 10.1002/jbmr.2517. Epub 2015 May 21.

13.

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.

Taranta A, Migliaccio S, Recchia I, Caniglia M, Luciani M, De Rossi G, Dionisi-Vici C, Pinto RM, Francalanci P, Boldrini R, Lanino E, Dini G, Morreale G, Ralston SH, Villa A, Vezzoni P, Del Principe D, Cassiani F, Palumbo G, Teti A.

Am J Pathol. 2003 Jan;162(1):57-68.

14.

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.

Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M.

BMC Med Genet. 2017 Dec 13;18(1):148. doi: 10.1186/s12881-017-0506-4.

15.

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

Pangrazio A, Caldana ME, Lo Iacono N, Mantero S, Vezzoni P, Villa A, Sobacchi C.

Osteoporos Int. 2012 Nov;23(11):2713-8. doi: 10.1007/s00198-011-1878-5. Epub 2012 Jan 10. Erratum in: Osteoporos Int. 2012 Nov;23(11):2719. Iacono, N L [corrected to Lo Iacono, N].

PMID:
22231430
16.

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.

Li YP, Chen W, Liang Y, Li E, Stashenko P.

Nat Genet. 1999 Dec;23(4):447-51.

PMID:
10581033
17.

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF.

Hum Mutat. 2003 Feb;21(2):151-7.

PMID:
12552563
18.

Human osteopetroses and the osteoclast V-H+-ATPase enzyme system.

Ogbureke KU, Zhao Q, Li YP.

Front Biosci. 2005 Sep 1;10:2940-54. Review.

PMID:
15970548
19.

In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.

Blair HC, Borysenko CW, Villa A, Schlesinger PH, Kalla SE, Yaroslavskiy BB, Garćia-Palacios V, Oakley JI, Orchard PJ.

J Bone Miner Res. 2004 Aug;19(8):1329-38. Epub 2004 Apr 5.

20.

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, Huang R, Chen H, Wu S, Shen Y, Fu Q, Chen F.

Mol Med Rep. 2014 Apr;9(4):1191-6. doi: 10.3892/mmr.2014.1955. Epub 2014 Feb 17.

PMID:
24535484

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